Disease: Midface retrusion
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZBTB20 Q9HC78 zinc finger and BTB domain containing 20 0.97 0.566 0.731
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
TCOF1 Q13428 treacle ribosome biogenesis factor 1 0.95 0.550 0.808
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
SP7 Q8TDD2 Sp7 transcription factor Nucleic acid binding 0.58 0.711 0.462
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
SLC25A24 Q6NUK1 solute carrier family 25 member 24 Transporter 3.4E-12 0.575 0.731
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PRDM16 Q9HAZ2 PR/SET domain 16 1.00 0.522 0.808
POLR1D P0DPB5 P0DPB6 RNA polymerase I and III subunit D Enzyme 0.36 0.603 0.692
POLR1C O15160 RNA polymerase I and III subunit C Enzyme 6.3E-10 0.595 0.615
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
OSGEP Q9NPF4 O-sialoglycoprotein endopeptidase Enzyme 7.1E-08 0.626 0.615
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MAF O75444 MAF bZIP transcription factor Transcription factor 0.74 0.623 0.769
LMNA P02545 lamin A/C 1.00 0.384 0.885
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
IARS2 Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 8.1E-02 0.590 0.654
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692